DAY 2 Question and Answer Panel | 2023 FAST Summit on Angelman Syndrome

Quick Overview

The panel at the 2023 FAST Summit on Angelman Syndrome addressed questions from the community. The panelists discussed the timeline for phase 3 trials, the possibility of combining gene therapy with ASO treatment, the use of the ORCA scale in clinical trials, the inclusion of mosaic patients in trials, and the variation in treatment response among patients. They also mentioned the importance of saving blood samples for future genomic analysis. The panel emphasized the need for patience and realistic expectations in the research process. The summit organizers expressed gratitude to the attendees and highlighted the importance of hope in the Angelman Syndrome community.


The second day of the 2023 FAST Science Summit on Angelman Syndrome featured a question and answer panel where community members had the opportunity to ask their pressing questions to the experts. The panel consisted of representatives from Ionis, Ultragenyx, Neuren, and Roche, who provided insights into the progress of their respective programs. Here are some highlights from the panel discussion.

Phase 3 Trials

One of the most commonly asked questions was about the expected start of Phase 3 trials for the programs currently in the clinic. Kemi from Ionis stated that the best-case scenario for their Phase 3 trial would be the second half of 2024. However, she emphasized that drug development is a complex process, and it is important to be realistic and patient with the timeline.

Becky from Ultragenyx mentioned that it is too soon to determine when their Phase 3 trial will start. They are currently collecting data and encouraged by the early results. They hope to have an update by mid-next year.

Nancy from Neuren shared that their Phase 2 trial is expected to read out next year. Once they have the full results, they will be able to provide a more reasonable update on the next steps.

Combination Therapies

A question was raised about the possibility of using ASOs in combination with gene therapy. Dr. Wilson explained that from a biological standpoint, there shouldn’t be any reason why patients couldn’t use both therapies. However, the challenge lies with payers, as they may be reluctant to cover the cost of two treatments. The data from ongoing trials will help determine if combination therapies are necessary.

Future of Gene Therapy

Stephanie was asked about her anticipations for the future of gene therapy. She mentioned that it is still too early to tell, but they are currently conducting non-human primate studies with updated optimized candidates. The data from these studies will be available early next year and will inform the decision on whether to proceed with Phase 1 trials.

ORCA Scale

A question was raised about the inclusion of the ORCA scale in clinical trials. The ORCA scale is a caregiver scale used to measure improvements in communication. The panelists explained that the scale is being used in some trials, but the results are not yet available. They emphasized the importance of patience as data analysis takes time.

Mental Health Support

The inclusion of questions related to mental health in caregiver surveys was discussed. Elizabeth explained that while the survey captures some aspects of mental health, it primarily focuses on quantifiable measures such as the use of mental health treatments and quality of life assessments. She acknowledged that there is more work to be done in this area.

Outliers in Trial Results

The panelists were asked about the outliers in trial results and whether certain patient characteristics, such as age or severity, influenced the response to treatment. They acknowledged that there is variation in response among patients and that it is an area of interest for future research. However, with limited data available, it is challenging to draw definitive conclusions at this stage.

Medication Use in Clinical Trials

A question was raised about the use of medications during clinical trials and whether it would preclude someone from participating. Liz clarified that medications are not prohibited in the trials, but patients need to be stable on their medications before starting the study. Adjustments to medication doses can be made during the trial as needed.


The question and answer panel at the 2023 FAST Science Summit provided valuable insights into the progress of Angelman Syndrome research and addressed important concerns from the community. The panelists emphasized the need for patience and realistic expectations as they continue to work towards developing effective treatments. The summit serves as a beacon of hope for the Angelman Syndrome community, and future meetings and webinars will provide further opportunities for engagement and knowledge sharing.

Talk details

  • Title: DAY 2 Question and Answer Panel | 2023 FAST Summit on Angelman Syndrome
  • Author(s): None
  • Author(s)’ affiliation: None
  • Publication date: 2023-11-12
  • Collection: 2023 FAST Science Summit